Copy-number disorders are a common cause of congenital kidney malformations.

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F12%3A33140437" target="_blank" >RIV/61989592:15110/12:33140437 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.ajhg.2012.10.007" target="_blank" >http://dx.doi.org/10.1016/j.ajhg.2012.10.007</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ajhg.2012.10.007" target="_blank" >10.1016/j.ajhg.2012.10.007</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Copy-number disorders are a common cause of congenital kidney malformations.

Popis výsledku v původním jazyce

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 x 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD casesharbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 x 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single

Název v anglickém jazyce

Copy-number disorders are a common cause of congenital kidney malformations.

Popis výsledku anglicky

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 x 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD casesharbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 x 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

The American Society of Human Genetics

ISSN

0002-9297

e-ISSN

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Svazek periodika

91

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

11

Strana od-do

987-997

Kód UT WoS článku

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EID výsledku v databázi Scopus

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